By Michael Ramírez
Certain diseases repeat from generation to generation in the same family. It is of the utmost importance to produce scientific knowledge about them as this will help prevent risks and stop genetic predisposition from turning into a death sentence.
One of the best-known inherited diseases is familial hypercholesterolemia (FH). According to some estimates, the prevalence of this genetic disorder around the world ranges from 13 to 34 million people.
To address this situation, a group of experts at the Metabolic Disorders Research Unit, which is made up of specialists from Mexico’s Salvador Zubirán Institute of Medical Sciences and Nutrition and the Tecnológico de Monterrey School of Medicine and Life Sciences, established the first Familial Hypercholesterolemia Patient Registry in Mexico.
What is Familial Hypercholesterolemia?
According to Dr. Alexandro Martagón, teaching and research professor at the Tecnológico de Monterrey School of Medicine and university representative before the Metabolic Disorders Research Unit, familial hypercholesterolemia is a genetic disorder associated with very high blood cholesterol levels, which increases the risk of suffering a heart attack early in life. This can be before age 55 in men and before 60 in women.
“FH is highly prevalent, and many patients often go undiagnosed and without proper treatment. We frequently hear stories from patients whose father or grandfather died of a heart attack at a young age. These events are sometimes attributable to genetic factors that can be detected on time. However, given the low diagnosis rate, many people continue to die at a young age because their condition goes unnoticed and without proper treatment for a long time,” said the professor, who is also a member of the Mexican Network of Researchers.
Patients with familial hypercholesterolemia, he explained, usually carry a defect in the LDL receptor gene, which is responsible for the removal of bad cholesterol from the body. If it is not removed, cholesterol builds up in the blood beyond normal levels.
“This disorder is passed down from generation to generation, and there’s a 50 percent chance the relatives of affected individuals will be born with familial hypercholesterolemia,” he added.
A Confidential Database
The Familial Hypercholesterolemia Patient Registry in Mexico is a database with confidential information about the patients’ medical and family histories, which is collected and stored for further analysis. The mission of this registry is to capture the work done by a multidisciplinary team of physicians and researchers to better treat patients affected by this disorder.
“The patient registry initiative first came from the European Society of Atherosclerosis. However, when the Metabolic Disorders Research Unit opened in 2017, we established our registry for the Mexican population. A total of 600 patients have been registered so far, and we have about 25 state representatives throughout the country, who coordinate clinicians and guide them through the patient registration process,” he said.
This research project, he also explained, has led to the publication of a number of papers in scientific journals. For example:
The Familial Hypercholesterolemia Patient Registry was established in order to collect “real-world” information. Through participation in this global call to action, we expect to improve the long-term outcome of all patients with FH in Mexico.
The Metabolic Disorders Research Unit
Dedicated to academic excellence, the Metabolic Disorders Research Unit is an innovation center focusing on the characterization and study of metabolic disorders—such as obesity, diabetes, and dyslipidemia (high levels of lipids, like cholesterol and triglycerides, in the blood)—in Mexico.
The Unit is also committed to the education of specialized human resources and the development of new diagnostic tools and treatment alternatives.
“The Unit opened in February, 2017. It is within Mexico’s Salvador Zubirán Institute of Medical Sciences and Nutrition. It is a collaborative project between the Institute and TecSalud by Tec de Monterrey,” Dr. Martagón explained.
“The idea is to be able to provide comprehensive treatment for any patient affected by metabolic disorders. To achieve this goal, we have 15 active clinical protocols, as well as infrastructure and state-of-the-art technology in different laboratories (i.e., body composition, functional studies) and specialized areas for sample collection, infusion, vascular function assessment, and minor procedures,” he concluded.